B2M gene

beta-2-microglobulin

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]

From UniProt:

Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system.

From NCBI Gene:

  • Familial visceral amyloidosis, Ostertag type
  • Hypoproteinemia, hypercatabolic

From UniProt:

Immunodeficiency 43 (IMD43): A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease. [MIM:241600]

Beta-2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states. The capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum levels lead to amyloidosis in patients on long-term hemodialysis.

Cytogenetic Location: 15q21.1, which is the long (q) arm of chromosome 15 at position 21.1

Molecular Location: base pairs 44,711,487 to 44,718,159 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q21.1, which is the long (q) arm of chromosome 15 at position 21.1